Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

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Synonyms: Da Silva syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay severe intellectual disability microcephaly and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus seizures cardiac anomalies recurrent bronchopneumonia camptodactyly preauricular skin tag and dysmorphic facial features (such as broad forehead hypertelorism flat nasal bridge anteverted nostrils and prominent ears) among others.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome?

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Advocacy Organizations

National Organization for Disorders of the Corpus Callosum

The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.